Our Statistics

Updated important Research Findings from Hong Kong Hereditary Breast Cancer Family Registry (Analysis of Participants recruited into research study till September 2017):

Analysis of 2549 breast cancer or ovarian cancer patients who are clinically considered high risk based on young age at diagnosis, multiple members with breast/ovarian/prostate and BRCA related cancers in the family. 

no of patient

The average age of women referred for genetic counselling and testing is 49.1 years old, which is at a post-menopausal age. 31.1% of them had age of diagnosis younger than 40 years old. 


BRCA mutation was found in 9.6% of patients (244 patients), of which 110 (45.1%) were BRCA1 mutation while the remaining 134 (54.9%) were BRCA2 mutation. This is noticeably different from patients from the Western world where majority of mutations are BRCA1 mutations.

Among these mutations SIX FOUNDER mutations in Chinese have been found. The REGISTRY is the first to report this finding and these 6 founder mutations accounts for 17.6% of all the BRCA mutations.

Among the 244 BRCA mutation carriers we also tested 535 of their family members. 223 (41.7%) of them were tested with positive result which included cancer patients and non-cancer patients. 


There were 15 (0.6%) and 2 (0.08%) patients carrying TP53 and PTEN mutations respectively being identified in the cohort, since the deployment of the 4-gene testing. The average age of TP53 carriers being referred for genetic counselling and testing was 39.0, much younger than that of BRCA mutation. 10 (66.7%) of them had age of diagnosis younger than 40 years old whereas 6 (40%) of them had even younger age of diagnosis – below 30. 


 Summary of the distributions of 4-Gene Mutation